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Volume 5, Issue 4
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1. An accurate gene test can tell if a mutation is present, but that finding does not guarantee that disease will develop.

Genetic Tests Find Mutations, NOT Disease - Chances of Developing Breast Cancer by Age 65 - women with altered BRCA 1 have an 80 percent chance; women with normal BRCA1 have between a 3 and 4 percent chance.

2. Because gene tests reveal information not only about the individual, but about his/her relatives and future offspring, the results can challenge family and other personal relationships. With whom should a person share test results? Do the other family members want to know?

Who Should Know?

3. Most diseases do not follow simple patterns of inheritance. Many factors influence a gene's ability to build proteins. For one thing, different mutations in the same gene can produce a wide range of effects. In cystic fibrosis, for example, the gene that controls mucus production can have more than 300 different mutations; some cause severe symptoms; some, mild symptoms; and some, no symptoms at all.

Disease Inheritance Is Complex - Gene Changes in Cystic Fibrosis - normal DNA produces no symptoms, DNA with mutation 1 produces severe symptoms, DNA with mutation 2 produces mild symptoms, DNA with mutation 3 produces no symptoms.


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